Mitochondria produce ATP, the energy source of life, and play an extremely important role in biological activities. The failure of mitochondria leads to serious life crises and the development of diseases. Diseases caused by mitochondrial abnormalities are collectively referred to as “mitochondrial diseases”. Mitochondrial disease is an intractable disease with a high frequency of inheritance, affecting one in 5,000 people. It is designated by the Japanese government as an intractable disease and as a pediatric chronic specific disease. Through joint research with the department of pediatrics at Saitama Medical School, the intractable disease research center at Juntendo University, and the department of metabolism at Chiba Children’s Hospital, we have worked on genome analysis, elucidation of pathological mechanisms, and drug discovery for mitochondrial diseases. We have identified novel disease-causing genes such as NDUFA8, PTCD3, C1QBP, MRPS23, QRSL1, and SLC25A26 (see Publications). Our current focus is as follows.

Genome analysis and pathogenesis of mitochondrial diseases

➤AMED (Japan Agency for Medical Research and Development), Practical Research Project for Rare / Intractable Diseases

Project name: The establishment of the evidence concerning to genotype, phenotype, and natural history in various types of mitochondrial diseases, which leads to revision of mitochondrial disease’s guideline(Principal Investigator:Kei Murayama, Research Collaborator: Yoshihito Kishita)

VUS annotation

➤AMED, Program for Promoting Platform of Genomics based Drug Discovery

Project name: Comprehensive functional annotation of Japanese specific VUS in mitochondrial disease」 (Principal Investigator:Yasushi Okazaki, Co-Investigator: Yoshihito Kishita)

Multi-Omics analysis of mitochondrial diseseases

➤ JSPS (Japan Society for the Promotion of Science), Grant-in-Aid for Scientific Research (B)「Comprehensive analysis of of aberrant gene expression in mitochondrial disorders」(Principal Investigator:Yasushi Okazaki, Co-Investigator: Yoshihito Kishita)

Iron homeostasis of mitochondrial diseseases

➤JSPS, Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)『Integrated Bio-metal Science』(Project leader: Kouhei Tsumoto)

Project name: The relationship between iron homeostasis and pathogenesis (Principal Investigator:Yoshihito Kishita)